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We have a skin disorder in our family which passes

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Pediatrician
Practicing since : 2005
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We have a skin disorder in our family which passes down from parents. I am not sure of the name but Poliosis or Mallen Streak have the same symptoms.

Basically new born babies are born with white streaks of hair in the front of the head. And some white streaks in legs and knees some times small and other times large white color spots as in vitiligo.

However, these spots are fixed and do not increase in size.

I visited a dermatologist once and he informed me this is some type of birthmark.

This is very common if the either of the parents has it. I noticed In the family if the father has it usually it is reflected in the first two born babies, if the mother has it comes in the second baby.

Is there a way to not pass this to newborn babies, and is there a way to know if it will occur or not in a newborn.

Sat, 3 Feb 2018 in Genetics
 
 
Answered by Dr. Diptanshu Das 29 minutes later
Brief Answer:
Hardly anything can be done about it

Detailed Answer:
Thanks for asking on HealthcareMagic.

Yes, I am familiar with the condition. You need to understand that the trait is genetic and so long as the genes are there, you would continue to pass it to the newborns. Gene editing is not yet in a mature stage and so you cannot really do anything about it.

Let me know if I could help further.

Regards
Above answer was peer-reviewed by
 
Follow-up: We have a skin disorder in our family which passes 4 hours later
Is it possible to be certain which new born the disorder will pass to? For example will it pass only to the first new born, or first and second? And if it does can I be certain it will not pass to the third?

Also, is it known what causes such disorder?

Thanks
 
 
Answered by Dr. Diptanshu Das 49 minutes later
Brief Answer:
Antenatal testing possible

Detailed Answer:
No, it is not possible to predict (before conception or fertilization) which newborn will get it. However, if one parent is affected and he/she had one parent who was affected, it would occur in 50% of the children as Waardenburg syndrome (as it is known) is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

However, it is possible to do a amniocentesis, chorionic villi sampling or certain other antenatal tests and to use the sample for genetic analysis to detemine whether the fetus in question is going to inherit this disorder.

Regards
Above answer was peer-reviewed by
 
Follow-up: We have a skin disorder in our family which passes 16 hours later
Dear Dr. Diptanshu

The symptoms of Waardnburg Syndrome never occurred in any of the newborn in the family, such as hearing difficulties, different eye colors or eyes that appear spaced.

The only things that occur is the white streaks of hair in the front of the head. And some white streaks in legs and knees as I mentioned. Other than that the babies appear totally normal and healthy. Could you confirm the name of the disorder as It would be helpful for me to know the inheritance pattern and if it possible to make a genetic analysis to the newborns.

Thanks
 
 
Answered by Dr. Diptanshu Das 48 minutes later
Brief Answer:
The gene locii need to be identified

Detailed Answer:
The name of the syndrome is indeed Waardnburg Syndrome but it is not necessary that the affected genes are exactly the same as the ones in this syndrome. So, a genetic analysis would be needed (for the affected individual as well as for the parents).

Regards
Above answer was peer-reviewed by
 
Follow-up: We have a skin disorder in our family which passes 2 hours later
To which specialist I should go to do a genetic analysis and is it certain it will identify the loci?

And is it enough if I go my self without parents if I am affected?
Thanks
 
 
Answered by Dr. Diptanshu Das 2 hours later
Brief Answer:
Medical genetics

Detailed Answer:
You need the assistance from medical genetics. You may get in touch with Center of Excellence In Genomic Medicine Research, KAU University.

If you want to know about your subsequent offsprings, you need to go. If you are the offspring in question, you need to take your parents along.

Regards
Above answer was peer-reviewed by
 
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